BRCA1 mutations in women with familial or early-onset breast cancer and BRCA2 mutations in familial cancer in Estonia

Table 1 Mutations, polymorphisms, synonymous substitutions, and alterations in introns in the BRCA1 and BRCA 2 genes from an Estonian population.

Mutation	Exon/intron	Type of mutation	Effect on amino acids	Early-onset N = 64	Familial N = 47	Predictive N = 33	Clinical importance in BIC
*BRCA1 Gene*
c.560+64delT	7 intron	deletion		1	1	0	new
c.560+ [36_38delCTT; 52_63delCTTTTTTTTTTT]	7 intron	deletion		6	1	0	new
c.666-58delT	8 intron	deletion		1	1	0	new
c.2430T>C	11 exon	synonymous	Leu771Leu	3	6	1	no
c.3232A>G	11 exon	missense	Glu1038Gly	4	0	0	no
c.3881-3882delGA	11 exon	frameshift	stop 1265	0	1	0	yes
c.4154delA	11 exon	frameshift	stop 1365	0	3	0	yes
c.4158A>G	11 exon	missense	Arg1347Gly	0	0	3	unknown
c.4427T>C	13 exon	synonymous	Ser1436Ser	1	0	0	unknown
c.4956 A>G	16 exon	missense	Ser1613Gly	5	2	0	no
c.5002T>C	16 exon	missense	Met1628Thr	1	0	0	unknown
c.5382insC	20 exon	frameshift	stop 1829	4	2	1	yes
c.5396+60insGTATTCCACTCC	20 intron	duplication		1	0	0	unknown
*BRCA2 Gene*
c.6631delTTAAATG	11 exon	deletion	Stop2167	0	1	0	new
c.9610C>T	25 exon	nonsense	Stop 3128	0	1	0	yes
c.7049G>T	11 exon	missense	Gly2274Val	0	2	0	unknown
c.7069+80delTTAG	11 intron	deletion		0	3	4	unknown

ISSN: 1897-4287